Incidental Mutation 'R4839:Otof'
| ID |
371616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otof
|
| Ensembl Gene |
ENSMUSG00000062372 |
| Gene Name |
otoferlin |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R4839 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
30524406-30619276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30576748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 168
(R168H)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074171]
[ENSMUST00000114747]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074171
AA Change: R168H
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: R168H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
2 |
97 |
6.83e-1 |
SMART |
|
C2
|
254 |
352 |
3.76e-11 |
SMART |
|
FerI
|
338 |
409 |
7.91e-38 |
SMART |
|
C2
|
417 |
528 |
1.75e-11 |
SMART |
|
low complexity region
|
607 |
618 |
N/A |
INTRINSIC |
|
FerB
|
841 |
917 |
5.13e-46 |
SMART |
|
C2
|
960 |
1067 |
1.77e-7 |
SMART |
|
low complexity region
|
1191 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1265 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1293 |
1323 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1385 |
N/A |
INTRINSIC |
|
low complexity region
|
1436 |
1447 |
N/A |
INTRINSIC |
|
C2
|
1493 |
1592 |
6.54e-11 |
SMART |
|
C2
|
1733 |
1863 |
4.02e0 |
SMART |
|
Pfam:Ferlin_C
|
1895 |
1994 |
7.2e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114747
AA Change: R168H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372
AA Change: R168H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
2 |
97 |
6.83e-1 |
SMART |
|
C2
|
269 |
367 |
3.76e-11 |
SMART |
|
FerI
|
353 |
424 |
7.91e-38 |
SMART |
|
C2
|
432 |
543 |
1.75e-11 |
SMART |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
FerB
|
856 |
932 |
5.13e-46 |
SMART |
|
C2
|
975 |
1082 |
1.77e-7 |
SMART |
|
Pfam:C2
|
1153 |
1236 |
1.8e-1 |
PFAM |
|
low complexity region
|
1260 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1288 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1365 |
1380 |
N/A |
INTRINSIC |
|
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
|
C2
|
1488 |
1587 |
6.54e-11 |
SMART |
|
C2
|
1728 |
1858 |
4.02e0 |
SMART |
|
low complexity region
|
1903 |
1915 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1959 |
1981 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133509
AA Change: R168H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120591
Gene: ENSMUSG00000062372
AA Change: R168H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
2 |
97 |
6.83e-1 |
SMART |
|
C2
|
269 |
367 |
3.76e-11 |
SMART |
|
FerI
|
353 |
424 |
7.91e-38 |
SMART |
|
C2
|
432 |
543 |
1.75e-11 |
SMART |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
FerB
|
856 |
932 |
5.13e-46 |
SMART |
|
C2
|
975 |
1082 |
1.77e-7 |
SMART |
|
Pfam:C2
|
1153 |
1236 |
1.4e-2 |
PFAM |
|
low complexity region
|
1260 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1288 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1365 |
1380 |
N/A |
INTRINSIC |
|
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
|
C2
|
1488 |
1587 |
6.54e-11 |
SMART |
|
C2
|
1728 |
1858 |
4.02e0 |
SMART |
|
low complexity region
|
1903 |
1915 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144125
|
| SMART Domains |
Protein: ENSMUSP00000120679
Gene: ENSMUSG00000062372
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
2 |
97 |
6.83e-1 |
SMART |
|
C2
|
254 |
352 |
3.76e-11 |
SMART |
|
FerI
|
338 |
409 |
7.91e-38 |
SMART |
|
C2
|
417 |
528 |
1.75e-11 |
SMART |
|
low complexity region
|
607 |
618 |
N/A |
INTRINSIC |
|
FerB
|
841 |
917 |
5.13e-46 |
SMART |
|
C2
|
960 |
1067 |
1.77e-7 |
SMART |
|
low complexity region
|
1191 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1265 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1293 |
1323 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1385 |
N/A |
INTRINSIC |
|
low complexity region
|
1436 |
1447 |
N/A |
INTRINSIC |
|
C2
|
1493 |
1592 |
6.54e-11 |
SMART |
|
C2
|
1733 |
1863 |
4.02e0 |
SMART |
|
Pfam:Ferlin_C
|
1895 |
1994 |
7.2e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150734
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,226,845 (GRCm39) |
S467T |
probably benign |
Het |
| 2310030G06Rik |
A |
T |
9: 50,652,023 (GRCm39) |
Y68* |
probably null |
Het |
| Abat |
T |
G |
16: 8,401,512 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
C |
T |
2: 25,330,921 (GRCm39) |
S1203F |
probably damaging |
Het |
| Adam22 |
G |
A |
5: 8,186,813 (GRCm39) |
P436L |
probably damaging |
Het |
| Ak3 |
A |
C |
19: 29,025,132 (GRCm39) |
L33R |
probably damaging |
Het |
| Arhgap11a |
A |
T |
2: 113,672,374 (GRCm39) |
I198K |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,065,544 (GRCm39) |
K103M |
possibly damaging |
Het |
| Atg16l1 |
T |
A |
1: 87,693,896 (GRCm39) |
N65K |
probably damaging |
Het |
| Btnl2 |
G |
A |
17: 34,584,260 (GRCm39) |
W394* |
probably null |
Het |
| Cacna1e |
C |
A |
1: 154,296,804 (GRCm39) |
R1687L |
probably damaging |
Het |
| Cacna1g |
G |
T |
11: 94,350,433 (GRCm39) |
R471S |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,578,587 (GRCm39) |
R205* |
probably null |
Het |
| Cdkl3 |
A |
T |
11: 51,895,861 (GRCm39) |
Y36F |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,344,648 (GRCm39) |
N488K |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,804,240 (GRCm39) |
C948S |
probably benign |
Het |
| Cep70 |
A |
G |
9: 99,178,138 (GRCm39) |
K446R |
probably benign |
Het |
| Cfap70 |
T |
C |
14: 20,475,597 (GRCm39) |
T375A |
probably damaging |
Het |
| Cfhr1 |
A |
G |
1: 139,487,871 (GRCm39) |
L9S |
probably damaging |
Het |
| Chrm4 |
T |
A |
2: 91,757,952 (GRCm39) |
M120K |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,840,921 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
C |
1: 45,362,963 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
T |
2: 65,852,375 (GRCm39) |
R256* |
probably null |
Het |
| Dbf4 |
T |
A |
5: 8,458,263 (GRCm39) |
K190* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,850,196 (GRCm39) |
I1573F |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,146,858 (GRCm39) |
I1446V |
probably benign |
Het |
| Dst |
G |
T |
1: 34,229,943 (GRCm39) |
R2187M |
probably damaging |
Het |
| Ece2 |
C |
T |
16: 20,449,918 (GRCm39) |
R257C |
probably damaging |
Het |
| Espn |
A |
G |
4: 152,222,961 (GRCm39) |
Y306H |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,839 (GRCm39) |
M202I |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,681,242 (GRCm39) |
L362P |
probably damaging |
Het |
| Ganc |
A |
C |
2: 120,290,304 (GRCm39) |
R880S |
probably benign |
Het |
| Gucy1b2 |
A |
T |
14: 62,685,695 (GRCm39) |
L90Q |
probably damaging |
Het |
| Hcn1 |
T |
A |
13: 118,062,246 (GRCm39) |
I504N |
unknown |
Het |
| Hdac2 |
C |
A |
10: 36,873,462 (GRCm39) |
T352K |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,455,172 (GRCm39) |
|
probably null |
Het |
| Hspa13 |
G |
A |
16: 75,562,169 (GRCm39) |
S10L |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,157,450 (GRCm39) |
I96T |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,438,220 (GRCm39) |
Y264C |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,657 (GRCm39) |
I322T |
probably benign |
Het |
| Kars1 |
A |
C |
8: 112,729,158 (GRCm39) |
V183G |
possibly damaging |
Het |
| Lrrc15 |
C |
A |
16: 30,093,086 (GRCm39) |
M84I |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,671,177 (GRCm39) |
V796E |
probably damaging |
Het |
| Matn4 |
G |
T |
2: 164,242,896 (GRCm39) |
D67E |
probably benign |
Het |
| Mertk |
A |
G |
2: 128,624,496 (GRCm39) |
M636V |
probably damaging |
Het |
| Mettl27 |
C |
A |
5: 134,963,266 (GRCm39) |
P126T |
probably damaging |
Het |
| Mfrp |
T |
A |
9: 44,013,432 (GRCm39) |
H52Q |
possibly damaging |
Het |
| Mrgprb8 |
T |
G |
7: 48,038,656 (GRCm39) |
I109R |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,165,666 (GRCm39) |
G512S |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,598,655 (GRCm39) |
R89S |
possibly damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nin |
G |
T |
12: 70,137,325 (GRCm39) |
H84N |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,962,893 (GRCm39) |
I826F |
possibly damaging |
Het |
| Or10d1 |
A |
G |
9: 39,484,441 (GRCm39) |
M38T |
probably benign |
Het |
| Or14c43 |
T |
C |
7: 86,115,117 (GRCm39) |
F166S |
probably damaging |
Het |
| Or1j11 |
G |
A |
2: 36,312,012 (GRCm39) |
V201I |
probably benign |
Het |
| Or4l15 |
C |
T |
14: 50,197,646 (GRCm39) |
M294I |
probably benign |
Het |
| Or52a5b |
T |
C |
7: 103,416,961 (GRCm39) |
I214M |
possibly damaging |
Het |
| Or5k3 |
A |
G |
16: 58,969,393 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,938 (GRCm39) |
S136P |
probably benign |
Het |
| Pcdha6 |
T |
C |
18: 37,101,485 (GRCm39) |
V226A |
possibly damaging |
Het |
| Pggt1b |
T |
C |
18: 46,391,166 (GRCm39) |
I200V |
possibly damaging |
Het |
| Ppat |
G |
A |
5: 77,098,811 (GRCm39) |
Q41* |
probably null |
Het |
| Ppfibp2 |
A |
T |
7: 107,342,192 (GRCm39) |
H27L |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,460,510 (GRCm39) |
I775N |
probably damaging |
Het |
| Rnf40 |
C |
T |
7: 127,191,812 (GRCm39) |
R349* |
probably null |
Het |
| Rtp3 |
A |
T |
9: 110,818,544 (GRCm39) |
W46R |
probably damaging |
Het |
| Sass6 |
C |
T |
3: 116,403,949 (GRCm39) |
R196W |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,799,932 (GRCm39) |
D131E |
probably benign |
Het |
| Slain2 |
T |
C |
5: 73,106,066 (GRCm39) |
S234P |
probably damaging |
Het |
| Slc47a1 |
C |
T |
11: 61,264,176 (GRCm39) |
|
probably null |
Het |
| Sp140 |
CAGAAGAAG |
CAGAAG |
1: 85,538,529 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,724,440 (GRCm39) |
T247A |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,713,264 (GRCm39) |
Y369* |
probably null |
Het |
| Spred2 |
T |
A |
11: 19,948,233 (GRCm39) |
M76K |
possibly damaging |
Het |
| Svs5 |
T |
A |
2: 164,078,806 (GRCm39) |
D367V |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,634,807 (GRCm39) |
P667S |
probably damaging |
Het |
| Tefm |
A |
T |
11: 80,027,947 (GRCm39) |
D270E |
probably benign |
Het |
| Tfcp2l1 |
C |
A |
1: 118,597,194 (GRCm39) |
P425H |
probably benign |
Het |
| Thbd |
A |
T |
2: 148,248,591 (GRCm39) |
C426S |
probably damaging |
Het |
| Timm10b |
T |
A |
7: 105,333,219 (GRCm39) |
D968E |
probably damaging |
Het |
| Tle2 |
C |
T |
10: 81,413,518 (GRCm39) |
T119I |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,650,224 (GRCm39) |
Y446N |
possibly damaging |
Het |
| Tpr |
T |
A |
1: 150,324,948 (GRCm39) |
L2400* |
probably null |
Het |
| Trrap |
T |
C |
5: 144,782,402 (GRCm39) |
F3328S |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,215,465 (GRCm39) |
C154Y |
probably damaging |
Het |
| Vmn1r79 |
T |
G |
7: 11,910,361 (GRCm39) |
M81R |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,812,000 (GRCm39) |
T3305A |
possibly damaging |
Het |
| Wdr62 |
T |
C |
7: 29,970,111 (GRCm39) |
E232G |
probably damaging |
Het |
| Wdr62 |
T |
A |
7: 29,940,890 (GRCm39) |
I843F |
probably benign |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,179 (GRCm39) |
S308G |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,896,353 (GRCm39) |
H361Q |
probably damaging |
Het |
| Zfp949 |
A |
C |
9: 88,452,047 (GRCm39) |
H539P |
probably damaging |
Het |
|
| Other mutations in Otof |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Otof
|
APN |
5 |
30,533,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00391:Otof
|
APN |
5 |
30,532,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00579:Otof
|
APN |
5 |
30,556,666 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00671:Otof
|
APN |
5 |
30,543,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01019:Otof
|
APN |
5 |
30,562,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01025:Otof
|
APN |
5 |
30,541,597 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01086:Otof
|
APN |
5 |
30,533,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01110:Otof
|
APN |
5 |
30,619,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01160:Otof
|
APN |
5 |
30,538,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01285:Otof
|
APN |
5 |
30,562,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01329:Otof
|
APN |
5 |
30,598,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01337:Otof
|
APN |
5 |
30,576,856 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01337:Otof
|
APN |
5 |
30,563,121 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01834:Otof
|
APN |
5 |
30,556,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Otof
|
APN |
5 |
30,536,598 (GRCm39) |
splice site |
probably benign |
|
|
IGL01969:Otof
|
APN |
5 |
30,539,827 (GRCm39) |
splice site |
probably benign |
|
|
IGL02075:Otof
|
APN |
5 |
30,528,070 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02077:Otof
|
APN |
5 |
30,556,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02136:Otof
|
APN |
5 |
30,531,336 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02227:Otof
|
APN |
5 |
30,528,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02475:Otof
|
APN |
5 |
30,534,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Otof
|
APN |
5 |
30,531,426 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02864:Otof
|
APN |
5 |
30,543,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03176:Otof
|
APN |
5 |
30,562,520 (GRCm39) |
splice site |
probably null |
|
|
R0285:Otof
|
UTSW |
5 |
30,536,877 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0421:Otof
|
UTSW |
5 |
30,528,912 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0570:Otof
|
UTSW |
5 |
30,529,225 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Otof
|
UTSW |
5 |
30,528,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Otof
|
UTSW |
5 |
30,539,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0715:Otof
|
UTSW |
5 |
30,552,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1019:Otof
|
UTSW |
5 |
30,528,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1183:Otof
|
UTSW |
5 |
30,529,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Otof
|
UTSW |
5 |
30,536,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1469:Otof
|
UTSW |
5 |
30,537,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1469:Otof
|
UTSW |
5 |
30,537,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1474:Otof
|
UTSW |
5 |
30,536,876 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1524:Otof
|
UTSW |
5 |
30,536,900 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1563:Otof
|
UTSW |
5 |
30,528,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1732:Otof
|
UTSW |
5 |
30,543,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Otof
|
UTSW |
5 |
30,536,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1845:Otof
|
UTSW |
5 |
30,529,067 (GRCm39) |
nonsense |
probably null |
|
|
R1925:Otof
|
UTSW |
5 |
30,551,532 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1938:Otof
|
UTSW |
5 |
30,533,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1968:Otof
|
UTSW |
5 |
30,545,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Otof
|
UTSW |
5 |
30,578,381 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1999:Otof
|
UTSW |
5 |
30,546,116 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2027:Otof
|
UTSW |
5 |
30,578,358 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2138:Otof
|
UTSW |
5 |
30,619,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2173:Otof
|
UTSW |
5 |
30,543,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2245:Otof
|
UTSW |
5 |
30,527,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3011:Otof
|
UTSW |
5 |
30,540,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3105:Otof
|
UTSW |
5 |
30,539,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3442:Otof
|
UTSW |
5 |
30,529,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Otof
|
UTSW |
5 |
30,542,610 (GRCm39) |
missense |
probably benign |
|
|
R3715:Otof
|
UTSW |
5 |
30,534,215 (GRCm39) |
nonsense |
probably null |
|
|
R3806:Otof
|
UTSW |
5 |
30,543,843 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3975:Otof
|
UTSW |
5 |
30,528,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4067:Otof
|
UTSW |
5 |
30,556,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Otof
|
UTSW |
5 |
30,576,850 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4166:Otof
|
UTSW |
5 |
30,539,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4451:Otof
|
UTSW |
5 |
30,542,508 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4485:Otof
|
UTSW |
5 |
30,532,344 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4600:Otof
|
UTSW |
5 |
30,529,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Otof
|
UTSW |
5 |
30,540,914 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4648:Otof
|
UTSW |
5 |
30,540,914 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4669:Otof
|
UTSW |
5 |
30,578,318 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4773:Otof
|
UTSW |
5 |
30,552,026 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4907:Otof
|
UTSW |
5 |
30,536,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4961:Otof
|
UTSW |
5 |
30,540,837 (GRCm39) |
intron |
probably benign |
|
|
R4991:Otof
|
UTSW |
5 |
30,551,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Otof
|
UTSW |
5 |
30,540,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Otof
|
UTSW |
5 |
30,541,783 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5038:Otof
|
UTSW |
5 |
30,541,783 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5253:Otof
|
UTSW |
5 |
30,527,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Otof
|
UTSW |
5 |
30,534,064 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5365:Otof
|
UTSW |
5 |
30,539,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5901:Otof
|
UTSW |
5 |
30,532,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6211:Otof
|
UTSW |
5 |
30,529,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6318:Otof
|
UTSW |
5 |
30,571,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Otof
|
UTSW |
5 |
30,529,279 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6671:Otof
|
UTSW |
5 |
30,576,877 (GRCm39) |
missense |
probably benign |
|
|
R6701:Otof
|
UTSW |
5 |
30,528,141 (GRCm39) |
nonsense |
probably null |
|
|
R6792:Otof
|
UTSW |
5 |
30,532,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Otof
|
UTSW |
5 |
30,545,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Otof
|
UTSW |
5 |
30,528,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7037:Otof
|
UTSW |
5 |
30,538,882 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7060:Otof
|
UTSW |
5 |
30,545,700 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7089:Otof
|
UTSW |
5 |
30,528,912 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7165:Otof
|
UTSW |
5 |
30,532,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7178:Otof
|
UTSW |
5 |
30,540,878 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7298:Otof
|
UTSW |
5 |
30,545,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Otof
|
UTSW |
5 |
30,527,614 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7397:Otof
|
UTSW |
5 |
30,533,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7400:Otof
|
UTSW |
5 |
30,542,532 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7428:Otof
|
UTSW |
5 |
30,547,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Otof
|
UTSW |
5 |
30,552,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Otof
|
UTSW |
5 |
30,528,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7714:Otof
|
UTSW |
5 |
30,527,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8002:Otof
|
UTSW |
5 |
30,537,954 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8032:Otof
|
UTSW |
5 |
30,619,142 (GRCm39) |
start codon destroyed |
probably benign |
0.07 |
|
R8153:Otof
|
UTSW |
5 |
30,546,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Otof
|
UTSW |
5 |
30,537,538 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8159:Otof
|
UTSW |
5 |
30,537,538 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8441:Otof
|
UTSW |
5 |
30,538,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8738:Otof
|
UTSW |
5 |
30,545,968 (GRCm39) |
nonsense |
probably null |
|
|
R8813:Otof
|
UTSW |
5 |
30,540,242 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8835:Otof
|
UTSW |
5 |
30,528,264 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8852:Otof
|
UTSW |
5 |
30,529,044 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8869:Otof
|
UTSW |
5 |
30,578,325 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9029:Otof
|
UTSW |
5 |
30,527,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9031:Otof
|
UTSW |
5 |
30,537,532 (GRCm39) |
missense |
probably benign |
|
|
R9061:Otof
|
UTSW |
5 |
30,546,001 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9100:Otof
|
UTSW |
5 |
30,539,696 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9121:Otof
|
UTSW |
5 |
30,536,462 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9188:Otof
|
UTSW |
5 |
30,534,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Otof
|
UTSW |
5 |
30,542,469 (GRCm39) |
missense |
probably benign |
|
|
R9280:Otof
|
UTSW |
5 |
30,528,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9395:Otof
|
UTSW |
5 |
30,532,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9400:Otof
|
UTSW |
5 |
30,540,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9407:Otof
|
UTSW |
5 |
30,538,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Otof
|
UTSW |
5 |
30,539,708 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9665:Otof
|
UTSW |
5 |
30,584,895 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9748:Otof
|
UTSW |
5 |
30,540,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Otof
|
UTSW |
5 |
30,536,576 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Otof
|
UTSW |
5 |
30,528,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Otof
|
UTSW |
5 |
30,541,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Otof
|
UTSW |
5 |
30,533,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTCATTCTGGCTAGAGC -3'
(R):5'- TCATAGGGAGCGAAAGTGCC -3'
Sequencing Primer
(F):5'- CTCTGGTTGAGAGGCAGGTGAG -3'
(R):5'- CTTCAGACCAGCCTGAGCATG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation